Hereditary sensory and autonomic neuropathy type III (Q41468): Difference between revisions
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Neuropatia hereditária sensitiva e autonômica, tipo 3 (NHSA3) é um transtorno autossômico recessivo observado primariamente em crianças judias Ashkenazi causada por uma mutação na proteína associada à quinase B I-kappa._x000D_ É caracterizada por disfunção sensitiva e grave comprometimento da atividade do sistema nervoso autonômico, resultando em disfunção multissistêmica._x000D_ Sintomas podem incluir insensibilidade à dor e à temperatura, dor visceral intacta, alacrimia, reflexos corneanos e tendinosos hipoativos e ausência de papilas fungiformes linguais. | |||
| description / en | description / en | ||
Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an autosomal recessive disorder seen primarily in Ashkenazi Jewish children caused by a mutation in the I-kappa B kinase associated protein. It is characterised by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction. Symptoms can include insensitivity to pain and temperature, intact visceral pain, alacrima, hypoactive corneal and tendon reflexes and absence of lingual fungiform papillae. | |||
Revision as of 07:39, 13 August 2026
Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an autosomal recessive disorder seen primarily in Ashkenazi Jewish children caused by a mutation in the I-kappa B kinase associated protein. It is characterised by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction. Symptoms can include insensitivity to pain and temperature, intact visceral pain, alacrima, hypoactive corneal and tendon reflexes and absence of lingual fungiform papillae.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8C21.1 |
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| English | Hereditary sensory and autonomic neuropathy type III |
Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an autosomal recessive disorder seen primarily in Ashkenazi Jewish children caused by a mutation in the I-kappa B kinase associated protein. It is characterised by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction. Symptoms can include insensitivity to pain and temperature, intact visceral pain, alacrima, hypoactive corneal and tendon reflexes and absence of lingual fungiform papillae. |
